+1kb

10009772(c.-14615G>C), 10009988(c.-14831G>A), 10010021(c.-14864T>C), 10010240(c.-15083A>G), 10010259(c.-15102G>A), 10010275(c.-15118G>A), 10010328(c.-15171T>C), 10010606(c.-15449T>G), 10010637(c.-15480G>A), 10010668(c.-15511C>T), 10010815(c.-15658T>C), 10011254(c.-16097A>C), 10011270(c.-16113A>G), 10011310(c.-16153C>T), 10011673(c.-16516A>C), 10011696(c.-16539A>G), 10011701(c.-16544T>C), 10011747(c.-16590G>A), 10011801(c.-16644A>G), 10011918(c.-16761T>C), 10011932(c.-16775T>C), 10012283(c.-17126T>C), 10012444(c.-17287G>C), 10012460(c.-17303A>G), 10012466(c.-17309G>A), 10012648(c.-17491A>G), 10012650(c.-17493A>G), 10012666(c.-17509A>G), 10013080(c.-17923T>C), 10013215(c.-18058T>C), 10013247(c.-18090G>A), 10013410(c.-18253A>G), 10013446(c.-18289A>G), 10013453(c.-18296C>T), 10013457(c.-18300C>A), 10013474(c.-18317G>A), 10013706(c.-18549A>G), 10013847(c.-18690T>C), 10013910(c.-18753C>T), 10013917(c.-18760A>G), 10014002(c.-18845G>A), 10014093(c.-18936G>C), 10014096(c.-18939T>C), 10014130(c.-18973T>C),

5'UTR

9999461(c.-166T>C), 10000042(c.-316C>G), 10000129(c.-403C>T),

CDS

9978820(c.258T>C),

3'UTR

INTRON

9979113(c.131-166A>G), 9979157(c.131-210T>C), 9979237(c.131-290G>T), 9979284(c.131-337C>T), 9979300(c.131-353A>G), 9979371(c.131-424G>A), 9979586(c.131-639C>T), 9979796(c.131-849T>G), 9979833(c.131-886T>A), 9979907(c.131-960C>T), 9980105(c.131-1158G>C), 9980115(c.131-1168G>A), 9980733(c.131-1786A>G), 9980949(c.131-2002A>G), 9980951(c.131-2004A>C), 9980954(c.131-2007T>A), 9980965(c.131-2018T>A), 9981028(c.131-2081G>A), 9981083(c.131-2136A>G), 9981517(c.131-2570C>T), 9981526(c.131-2579A>G), 9981531(c.131-2584A>G), 9981571(c.131-2624G>T), 9981782(c.131-2835A>T), 9981792(c.131-2845T>C), 9981823(c.131-2876C>T), 9981829(c.131-2882C>T), 9981864(c.131-2917A>G), 9981993(c.131-3046C>G), 9982017(c.131-3070G>A), 9982300(c.130+3292A>G), 9982444(c.130+3148C>T), 9982930(c.130+2662G>T), 9982955(c.130+2637C>T), 9982959(c.130+2633A>T), 9983055(c.130+2537G>T), 9983060(c.130+2532T>G), 9983110(c.130+2482A>G), 9983199(c.130+2393A>G), 9983206(c.130+2386G>A), 9983315(c.130+2277T>A), 9983323(c.130+2269T>G), 9985315(c.130+277T>C), 9985383(c.130+209T>C), 9985772(c.13-63G>C), 9985838(c.13-129G>C), 9985882(c.13-173T>C), 9986024(c.13-315A>C), 9986027(c.13-318T>G), 9986047(c.13-338A>G), 9986053(c.13-344A>G), 9986184(c.13-475A>G), 9986211(c.13-502T>C), 9986230(c.13-521A>G), 9986288(c.13-579A>G), 9986308(c.13-599G>T), 9986672(c.13-963T>C), 9986719(c.13-1010C>T), 9986732(c.13-1023A>C), 9986931(c.13-1222A>G), 9986954(c.13-1245G>A), 9987021(c.13-1312T>C), 9987023(c.13-1314G>A), 9987041(c.13-1332T>C), 9987278(c.13-1569G>A), 9987351(c.13-1642T>C), 9987375(c.13-1666G>C), 9987429(c.13-1720A>G), 9987463(c.13-1754G>A), 9987861(c.13-2152T>C), 9988066(c.13-2357C>T), 9988109(c.13-2400C>T), 9988113(c.13-2404A>G), 9988123(c.13-2414A>C), 9988259(c.13-2550C>T), 9988285(c.13-2576T>G), 9988319(c.13-2610C>T), 9988323(c.13-2614G>A), 9988355(c.13-2646A>G), 9988372(c.13-2663A>G), 9988442(c.13-2733A>G), 9988461(c.13-2752A>G), 9990057(c.13-4348C>T), 9990590(c.12+4556A>G), 9990841(c.12+4305T>C), 9990886(c.12+4260T>G), 9990932(c.12+4214G>A), 9990938(c.12+4208A>G), 9990993(c.12+4153T>G), 9990999(c.12+4147G>A), 9991022(c.12+4124G>A), 9991033(c.12+4113G>A), 9991072(c.12+4074G>T), 9991130(c.12+4016A>G), 9991131(c.12+4015C>T), 9991147(c.12+3999A>G), 9991369(c.12+3777A>G), 9991512(c.12+3634A>G), 9991553(c.12+3593T>A), 9991695(c.12+3451A>G), 9992013(c.12+3133T>C), 9992036(c.12+3110T>G), 9992080(c.12+3066A>T), 9992085(c.12+3061G>A), 9992196(c.12+2950T>C), 9992249(c.12+2897T>C), 9992271(c.12+2875T>C), 9992634(c.12+2512A>G), 9992635(c.12+2511A>T), 9992675(c.12+2471T>G), 9992677(c.12+2469G>A), 9992679(c.12+2467A>T), 9992680(c.12+2466G>T), 9993060(c.12+2086G>A), 9993094(c.12+2052C>A), 9993107(c.12+2039C>T), 9993315(c.12+1831A>G), 9993433(c.12+1713A>T), 9993562(c.12+1584C>A), 9993646(c.12+1500C>T), 9993734(c.12+1412A>G), 9993766(c.12+1380A>G), 9993927(c.12+1219G>A), 9994479(c.12+667C>G), 9994481(c.12+665G>C), 9994933(c.12+213G>A), 9994939(c.12+207A>G), 9994950(c.12+196C>T), 9994994(c.12+152G>T), 9995038(c.12+108T>A), 9995128(c.12+18T>C), 9996582(c.-105-1320A>G), 9996865(c.-105-1603C>T), 9996872(c.-105-1610C>T), 9996883(c.-105-1621A>G), 9996884(c.-105-1622C>T), 9996887(c.-105-1625A>G), 9997181(c.-105-1919T>C), 9997198(c.-105-1936A>C), 9997296(c.-105-2034G>T), 9997314(c.-105-2052A>G), 9997355(c.-106+2046A>C), 9997358(c.-106+2043G>C), 9997366(c.-106+2035C>T), 9997375(c.-106+2026G>T), 9997397(c.-106+2004T>C), 9997499(c.-106+1902C>T), 9997519(c.-106+1882T>C), 9997645(c.-106+1756C>T), 9997647(c.-106+1754G>A), 9997661(c.-106+1740G>A), 9997679(c.-106+1722C>A), 9997681(c.-106+1720T>A), 9997691(c.-106+1710C>G), 9997693(c.-106+1708T>C), 9997842(c.-106+1559G>A), 9997853(c.-106+1548C>T), 9997952(c.-106+1449G>T), 9997997(c.-106+1404A>C), 9998050(c.-106+1351T>G), 9998099(c.-106+1302C>A), 9998149(c.-106+1252G>T), 9998252(c.-106+1149T>A), 9998253(c.-106+1148C>G), 9998352(c.-106+1049C>T), 9998407(c.-106+994C>A), 9998445(c.-106+956C>T), 9998449(c.-106+952T>G), 9998484(c.-106+917C>T), 9998589(c.-106+812A>G), 9998749(c.-106+652C>T), 9998916(c.-106+485C>T), 9999101(c.-106+300C>T), 9999268(c.-106+133G>A), 9999281(c.-106+120C>T), 9999326(c.-106+75G>A), 9999328(c.-106+73A>G), 9999369(c.-106+32C>T), 9999937(c.-245+34G>A), 10000287(c.-411-150A>G), 10000432(c.-411-295G>A), 10000459(c.-411-322C>T), 10000591(c.-411-454T>C), 10000686(c.-411-549A>C), 10000829(c.-411-692T>C), 10000832(c.-411-695C>T), 10000883(c.-411-746C>T), 10000964(c.-411-827G>T), 10001107(c.-411-970A>C), 10001115(c.-411-978T>C), 10001120(c.-411-983T>C), 10001867(c.-411-1730G>C), 10001900(c.-411-1763A>G), 10002060(c.-411-1923G>A), 10002320(c.-411-2183C>T), 10002321(c.-411-2184C>T), 10002332(c.-411-2195A>G), 10002373(c.-411-2236C>T), 10002376(c.-411-2239T>C), 10002410(c.-411-2273C>T), 10002412(c.-411-2275T>C), 10002603(c.-411-2466C>T), 10002803(c.-411-2666T>C), 10002947(c.-411-2810G>A), 10003137(c.-411-3000A>G), 10003598(c.-411-3461T>C), 10003643(c.-411-3506T>C), 10003790(c.-411-3653C>T), 10003915(c.-411-3778C>T), 10003997(c.-411-3860G>A), 10004101(c.-411-3964T>A), 10004168(c.-411-4031G>A), 10004273(c.-411-4136G>A), 10004345(c.-411-4208C>T), 10004350(c.-411-4213G>A), 10004372(c.-411-4235G>A), 10004435(c.-411-4298C>T), 10004465(c.-411-4328G>A), 10004564(c.-411-4427G>A), 10004765(c.-412+4307T>C), 10004774(c.-412+4298C>T), 10004807(c.-412+4265C>T), 10004840(c.-412+4232C>T), 10004873(c.-412+4199C>T), 10004927(c.-412+4145T>C), 10004936(c.-412+4136T>C), 10004956(c.-412+4116T>C), 10004967(c.-412+4105A>C), 10005170(c.-412+3902C>T), 10005186(c.-412+3886T>C), 10005411(c.-412+3661A>G), 10005602(c.-412+3470T>C), 10005810(c.-412+3262G>A), 10005845(c.-412+3227A>G), 10007292(c.-412+1780C>T), 10007698(c.-412+1374A>G), 10007831(c.-412+1241G>A), 10007840(c.-412+1232C>T), 10008058(c.-412+1014G>A), 10008088(c.-412+984A>C), 10008123(c.-412+949A>G), 10008126(c.-412+946G>A), 10008146(c.-412+926C>A), 10008226(c.-412+846T>A), 10008306(c.-412+766G>A), 10008310(c.-412+762C>A), 10008411(c.-412+661C>A), 10008859(c.-412+213C>T), 10008880(c.-412+192G>A), 10009005(c.-412+67G>C),

-1kb

9973880(c.*4936G>A), 9973908(c.*4908C>T), 9974086(c.*4730A>C), 9974171(c.*4645T>G), 9974205(c.*4611A>G), 9974550(c.*4266G>A), 9974815(c.*4001G>T), 9974919(c.*3897G>T), 9975247(c.*3569T>C), 9975379(c.*3437A>G), 9975390(c.*3426A>T), 9975504(c.*3312T>A), 9975556(c.*3260A>T), 9975599(c.*3217C>T), 9975652(c.*3164A>G), 9975655(c.*3161G>A), 9975729(c.*3087A>C), 9975794(c.*3022G>A), 9975843(c.*2973T>C), 9975848(c.*2968T>A), 9976021(c.*2795A>G), 9976070(c.*2746C>T), 9976145(c.*2671A>T), 9976212(c.*2604A>T), 9976227(c.*2589G>A), 9976481(c.*2335G>C), 9976483(c.*2333C>T), 9976914(c.*1902C>T), 9977183(c.*1633G>A), 9977200(c.*1616A>G), 9977218(c.*1598G>T), 9977369(c.*1447A>T), 9977618(c.*1198T>C), 9977632(c.*1184G>T), 9977740(c.*1076G>T), 9977924(c.*892A>G), 9978206(c.*610C>T), 9978244(c.*572G>A), 9978272(c.*544G>A), 9978276(c.*540T>C), 9978282(c.*534C>T), 9978283(c.*533C>A), 9978398(c.*418T>A), 9978567(c.*249G>A), 9978574(c.*242C>A), 9978637(c.*179A>G), 9978653(c.*163A>G), 9978707(c.*109C>A), 9978761(c.*55C>T), 9978762(c.*54G>A), 9978776(c.*40C>T), 9978777(c.*39A>G),

+1kb

10010090 (c.-14934_-14933insCTTT), 10011332 (c.-16176_-16175insCACA), 10012585 (c.-17429_-17428insAAA), 10013923 (c.-18767_-18766insTGTC),

5'UTR

CDS

3'UTR

INTRON

9978976 (c.131-31_131-30dupAC), 9979911 (c.131-968_131-965dupAGAA), 9981398 (c.131-2452dupT), 9982024 (c.131-3078_131-3077insA), 9982100 (c.131-3154dupA), 9982107 (c.131-3161_131-3160insA), 9982259 (c.131-3313_131-3312insTATGTGT), 9982520 (c.130+3071_130+3072insACTACATCAA), 9985556 (c.130+35_130+36insG), 9986093 (c.13-386_13-385dupCT), 9986416 (c.13-708_13-707insATT), 9987972 (c.13-2264_13-2263insAATAGC), 9987987 (c.13-2279_13-2278insAAT), 9990542 (c.12+4603_12+4604insTC), 9993671 (c.12+1474_12+1475insA), 9994520 (c.12+625_12+626insAG), 9994869 (c.12+276_12+277insC), 9998176 (c.-106+1224_-106+1225insG), 9998253 (c.-106+1147_-106+1148insTTAT), 9998312 (c.-106+1088_-106+1089insG), 9998315 (c.-106+1085dupG), 9998954 (c.-106+446dupC), 10001272 (c.-411-1138_-411-1136dupTGT), 10003971 (c.-411-3835_-411-3834insCAATAAC), 10004129 (c.-411-3993dupA), 10004732 (c.-412+4338_-412+4339dupAC), 10005774 (c.-412+3297_-412+3298insAATTA),

-1kb

9974821 (c.*3992_*3994dupTTG), 9975361 (c.*3453_*3454dupTG), 9975630 (c.*3183_*3185dupAAA), 9978020 (c.*795_*796insAG), 9978125 (c.*689_*690dupTT), 9978452 (c.*363_*364insCAGTCTC),

+1kb

10012490 (c.-17335_-17334delCA), 10012689 (c.-17537_-17533delACAAG), 10013277 (c.-18122_-18121delAT),

5'UTR

CDS

3'UTR

INTRON

9980460 (c.131-1515_131-1514delTG), 9985046 (c.130+544_130+545delTT), 9985114 (c.130+477delA), 9985167 (c.130+420_130+424delAAGGC), 9985173 (c.130+415_130+418delGAAG), 9987185 (c.13-1480_13-1477delCTGT), 9987208 (c.13-1503_13-1500delTATT), 9987231 (c.13-1526_13-1523delATTT), 9988406 (c.13-2698delA), 9989998 (c.13-4290delG), 9990226 (c.13-4521_13-4518delGACT), 9991013 (c.12+4127_12+4132delAACGGT), 9992680 (c.12+2465delA), 9993693 (c.12+1452delA), 9993855 (c.12+1288_12+1290delTAT), 9994527 (c.12+618delA), 9994536 (c.12+609delA), 9995053 (c.12+92delA), 10001263 (c.-411-1127delG), 10001435 (c.-411-1300_-411-1299delTA), 10001456 (c.-411-1320delT), 10001462 (c.-411-1326delT), 10002789 (c.-411-2653delA), 10003062 (c.-411-2927_-411-2926delAA), 10004013 (c.-411-3880_-411-3877delGATC), 10005705 (c.-412+3366delC), 10008385 (c.-412+686delT),

-1kb

9974355 (c.*4459_*4460delAT), 9974804 (c.*4007_*4011delGTTGT), 9976446 (c.*2368_*2369delAG), 9977468 (c.*1344_*1347delACCC),

MHVKDLELLLKKLMKLWKMDLNGNPVCLKPKYRDKLILTSKSLEFLDGKEIKDMERQFLM
NWKASKDAKKISKKRRSRSEDASNSYI

MHVKDLELLLKKLMKLWKMDLNGNPVCLKPKYRDKLILTSKSLEFLDGKEIKDMERQFLM
NWKASKDAKKISKKRRSRSEDASNSYI

..........TGACAATGGTGAGAGAAAAGAATGCTGTCCTCAGTTCTTTTCTTTCTTTC
GCTCTTTCTTTCTTTTTCTTTTACAAAGGCAGATCCTTGTTATGCTAAAGAACTTCATAC
TAGTTGTTGAGGAAAACAGAAACTAACAAAATACAACAGTAAGGCTTTCTGAAAGTTTAC
CCTGATCTAAGCTGAGATAAAGAGGGAATAAAACGTAAGAGGGGTGATCACTTCGGCAGC
ATATGTACTAAAAGTGGAACAATACAGAGATTTGCACGGCCTCTGCACAAATATGACACA
CAAATTTGTGAAACATTCCATATTTTTGTGACTGGGAGCGTGCGGGGCAGGTGGTGGTGG
CGGCGGCGCTGATGGTGAGTGGGATGAATAAACTAAAAACAAACAAACAAACAAAAAACA
GATGGCAGTGGCTCGTGCCTTTCATCCTAACAGAGGTAGTGGATTGATGTCAGAGTTCGA
GGTCAGCCCAAGTTCCAGGACAGACAGAGCTACACAGAAAAACCCTGTCTCAAAAGACAA
CAAAAACAAAAACAAAACAAAAGAGGAAAGAAAACGTGCTATTGATACCCCAAAAGCTGG
AGAATGGAACAGAGCATATCGGAACCCGAGAATCCTGAATAAGACAGGAAGCGGCAAGCT
GCGAGGAGTGCCGTGACTATCAACCCAAGTTTGGGTTTTATCCTAGCAATGAATGTGGAG
TTCTGGCTGTACCTACAGGCTATTCCTTTGGGTCTATACAGGGGCAGGTGTGGTTACCGG
ACACTAAAATAATCAAAGGTGATGGAGAGGGAAACGATAGCCTGCAAATCTTATTCTGCC
CAAACTAACTGGTCTTTTTCGGGACCACCAGTGCACAACACCAACTCTCTGGCGTCCCTG
TCACAAAGAGCCAGACTCAAGGCGGGCCCTGCGGGCTTCCCTGACGTCACGAGACTTAAT
CTGCCTGGGCGTTTGGAGCATTTGGTCGCCTGGCAACCGCCGCTGGCTTT

GGAGGAGCCTGGCACAAGGACACTGACCAAACCAGTTACAGACCCGACTGGACAGAGCG

GTGAGAAGCCCCCCGAAAAGCCTAG..........AGGGCCTGTTTTGTTTACTTTTCAG

GATGACCTTTCTCTTTGCAGAAACCTGAGTGTTTTATATTTATATGATAATCGCATTAGT
CAAGTCACTAACCTGAATTACACCACAAATCTGACGCACTTGTACCTACAGAACAATTGC
ATTTCCTGCATTGAAAACCTCAGTTCACTAAAGAAATTGGAAAAACT

GTAAGTGCATTTCTTTTCTAATCCT..........ATTTGAAGCCATGTCTGTTTTGCAG

GTATCTGGGAGGCAATTACATTGCGGTCATAGAAGGCTTGGAAGGATTAGAAGAACTAAG
AGAGCTTCATGTTGAAAGCCAGAGGCTCCCTCTAGGCGAAAAGCTTCTGTTTGATCCAAG
AACTCTTCGTTCTCTAGCG

GTAAGGCCACATTCAAATGTTGGGG..........GTTAATGTAGTGATTTTTCTTCCAG

AAATCCCTCTCTACTTTGAATATCAGCAACAATAACATTGATGACATAAAAGACTTAGAG
ATCTTGGAGAATCTTAATCACCTGATTGCAGTTGACAACCAGCTGATGCACGTGAAG

GTAACATGAAGTCGACGCAAAGTAT..........CTTCTCTTTTCTTTCCTGACTACAG

GACTTGGAGCTTTTACTGAAAAAACTGATGAAGCTGTGGAAAATGGATCTAAATGGAAAT
CCTGTTTGTCTTAAACCAAAATACAGGGACAAACTGATACTGACGTCCAAGTCACTGG

GTGAGTGTTTTACATTAACCCAATT..........TTTTTAACATACATGTCTTCTCCAG

AATTTCTTGATGGAAAAGAAATAAAAGATATGGAAAGACAATTCCTAATGAATTGGAAAG
CATCCAAAGATGCCAAGAAAATCAGCAAGAAAAGGAGGAGCAGAAGTGAGGATGCAAGCA
ACTCCTACATAA

GTAAGTGCTCACCACTCGCCACCGTGTCCCTCACCACCGTGTCCCTCACCACCATGTCCC
TCGCCACCACGTCCAGCAAAGGGAGCAGTGTCACACAAGCTACAAAAAACAAGTGGGTAG
CGGTGAGGGTTTACTGCGGTGGGGATTTCGGCTTTAATGTGTGTTCAGTTACCTAGTTGT
CAATGAAGATAAAGATAGAAATTTTACCTGCAGTGAAAATGGTAGCCAGTATGAACAAAC
CATGCACTAGGTTCACACTGGCTGAGCCTGTGTTAGCCACATACAGGATCATGCTGAGTA
TGGGGAAAATATGAGGTTTTATTCCAGCAAGTACATATGTCAGTTGCATAAAATGATAAA
AAAATTATAAACTGTGAAACCTAAGTCACTATAACATCAGTGCAAAACAATCCCATTATT
TTTATTAAGATAAAAATTTGTATACATATCACATCCATAACCCAGCACTCAGGATGCTGA
AACAGGAGGATCACAGTCAGTTTAAGGCCAATCTGAGTTAATGATGAATTCCATGACAGC
CTAAGCAACGGAATGAGGTCCAGTAAAATCAACAAACAAATATTAAAATTAAATATAAGT
CAACCACATTTGACCTGCATTCTGTGGCCAGTCCATGTCTTGTGCACATGCTAGAGCCTA
AATGCTTGGGTTACGGTATGCTTGGCTGTTAGAAACGACATACTAGCCTCTGCCTAATTA
ATGCAACTAAATACAAATAAGAGTAATGAAACAGTTATCTTGGCCATATGAAGAAGCCTA
CCAGACCTGACCCACAGTCTTTAGTGGAATAAGCCTCTTGCACTCACAATAGTGTGTGAG
TCTCAGCATCTTGCTCCACAACTAACTTTTCTTGGTACCTTTGGATGCAGGGGCTGGAAG
CATTCCAGGGCAGCTGTGAGGGATTGGACCCCGGGCAGGACAGTGGCAGAGACAGCACAG
AGGTCTGTCACTCTAGGAGAAGGTTGAAGTGAGGAAGGTG..........